Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834132
rs386834132
CLN8
G 0.700 GeneticVariation CLINVAR Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion. 22220808

2012
dbSNP: rs386834132
rs386834132
CLN8
G 0.700 GeneticVariation CLINVAR Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells. 15160397

2004
dbSNP: rs386834132
rs386834132
CLN8
G 0.700 GeneticVariation CLINVAR The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. 10861296

2000